J. Dastgir

发表

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

R. Finkel, E. Bertini, S. Peltz, 2017, The Lancet.

Chapter 14 – Neonatal Hypotonia and Neuromuscular Disorders

B. Darras, J. Dastgir, Keung-kit Chan, 2012 .

Electrical impedance myography discriminates congenital muscular dystrophy from controls

C. Bönnemann, T. Lehky, J. Dastgir, 2016, Muscle & nerve.

Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies

C. Bönnemann, D. Cuadras, C. Ortez, 2021, Neurology.

Acute Paradoxical Herniation: A Case Report

J. Dastgir, Vanessa C. Denny, D. Shalev, 2021, Journal of Pediatric Neurology.

Clinical, Pathological and Mutational Spectrum of Dystroglycanopathy Due to LARGE Mutations

Jeffrey A. Golden, Jeffrey A Golden, R. Finkel, 2016 .

Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients

A. Arai, C. Bönnemann, S. Donkervoort, 2020, Neuromuscular Disorders.

Neuromuscular Complications in the Critically Ill Child

J. Dastgir, H. McMillan, 2017 .

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

C. Ottenheijm, C. Bönnemann, N. Laing, 2015, Annals of neurology.

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

R. Finkel, K. Bushby, J. Jaiswal, 2020, Annals of neurology.

Identification of a novel nemaline myopathy‐Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish

A. Ankala, C. Chiriboga, D. D. De Vivo, 2015, Muscle & nerve.

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.

Jamie L. Marshall, D. MacArthur, M. Lek, 2019, Journal of neuromuscular diseases.

Comparison of sitting and supine forced vital capacity in collagen VI‐related dystrophy and laminin α2‐related dystrophy

R. Szczesniak, C. Bönnemann, S. Donkervoort, 2017, Pediatric pulmonology.

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.

Beryl B. Cummings, D. MacArthur, M. Lek, 2016, American journal of human genetics.

‘Double trouble’: Diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia

C. Bönnemann, K. Wagner, S. Donkervoort, 2013, Neuromuscular Disorders.

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

L. Mesrob, B. Banwell, E. Malfatti, 2017, Neuromuscular Disorders.

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

C. Fauth, C. Bönnemann, J. Pilch, 2017, Genetics in Medicine.

Electrical impedance myography in individuals with collagen 6 and laminin α‐2 congenital muscular dystrophy: a cross‐sectional and 2‐year analysis

C. Bönnemann, T. Lehky, D. Lott, 2017, Muscle & nerve.

Acute Tumefactive Demyelinating Lesions in a Pediatric Patient With Known Diagnosis of Multiple Sclerosis: Review of the Literature and Treatment Proposal

J. Dastgir, F. DiMario, 2009, Journal of child neurology.

MRI in sarcoglycanopathies: a large international cohort study

E. Bertini, E. Mercuri, F. Muntoni, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

A Cross-Sectional Study of Nemaline Myopathy

Ching H. Wang, M. Brudno, J. Dowling, 2021, Neurology.

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

Janel O. Johnson, R. Finkel, M. Devoto, 2015, JAMA neurology.

Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies

M. Cookson, C. Bönnemann, M. Santi, 2021, Annals of clinical and translational neurology.

Treatment of infantile neuroaxonal dystrophy with RT001: A di‐deuterated ethyl ester of linoleic acid: Report of two cases

M. Shchepinov, D. Adams, P. Atwal, 2020, JIMD reports.

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β‐Cardiac Myosin (MYH7) Distal Myopathy

K. Bushby, A. Beggs, N. Laing, 2014, Human mutation.

Severe congenital RYR1-associated myopathy

R. Finkel, J. Dowling, L. Medne, 2013, Neurology.

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

R. Finkel, J. Golden, L. Medne, 2014, Journal of neuropathology and experimental neurology.

Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

T. Crawford, F. Muntoni, R. Weiss, 2015, Human mutation.

Position of Glycine Substitutions in the Triple Helix of COL6A1, COL6A2, and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

R. Weiss, D. Dunn, K. Flanigan, 2013, Human mutation.

Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy

R. Finkel, A. Pestronk, E. Mazzone, 2019, Journal of Pharmacokinetics and Pharmacodynamics.

Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study.

W. Triplett, C. Bönnemann, D. Lott, 2020, Journal of neuromuscular diseases.

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

M. Lek, C. Bönnemann, M. Deardorff, 2017, Human molecular genetics.

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.

M. Main, C. Bönnemann, L. Hynan, 2019, Neurology.

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype

C. Bönnemann, S. Iannaccone, T. Winder, 2015, Neurology.

Imaging findings in a child with calcineurin inhibitor-induced pain syndrome after bone marrow transplant for beta thalassemia major

R. Ayyala, J. Dastgir, M. Bhatia, 2016, Pediatric Radiology.

148 – Congenital Myopathies

J. Dowling, J. Dastgir, H. Gonorazky, 2017 .

Nusinersen versus Sham Control in Infantile‐Onset Spinal Muscular Atrophy

R. J. Ramamurthi, S. Y. Kim, H. Y. Wang, 2017, The New England journal of medicine.

Common Data Elements for Muscle Biopsy Reporting.

H. Goebel, Ke Yan, Y. Hayashi, 2016, Archives of pathology & laboratory medicine.

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

C. Blackstone, C. Bönnemann, W. Zein, 2014, Clinical genetics.